Variant report

Variant	rs2708259
Chromosome Location	chr7:147593387-147593388
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11561915	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11561916	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11761543	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11980029	0.85[AFR][1000 genomes]
rs12533758	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17237331	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1861009	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2215798	0.87[AFR][1000 genomes]
rs2538973	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2538975	0.86[AFR][1000 genomes]
rs2708242	0.84[AFR][1000 genomes]
rs2708244	0.85[AFR][1000 genomes]
rs2710101	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2710103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2710106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34126004	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34902210	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57708946	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58175733	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023913	chr7:147521075-147806318	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1026058	chr7:147521109-147783042	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv539179	chr7:147521109-147783042	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv934002	chr7:147521110-147807705	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1017610	chr7:147523752-147806427	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147591600-147593400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:147591800-147593600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:147593200-147593400	Enhancers	H1 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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